A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7070n100



Internal ID22793157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12403406..12564499hg38UCSC Ensembl
chr8:12260915..12422008hg19UCSC Ensembl
chr8:12305286..12466379hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38161094
hg19161094
hg18161094
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1017074, nsv1021397, nsv1027017, nsv1032213, nsv1027737, nsv1028539
Samples
Known GenesFAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC729732
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv7070n100
Frequency
Sample Size11257
Observed Gain54
Observed Loss51
Observed Complex0
Frequencyn/a


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